CAV3(redirected from MGC126129)
CAV3A gene on chromosome 3p25 that encodes a caveolin that which functions as a component of the caveolae plasma membranes found in most cell types, serving as scaffolding scaffolding proteins for organising and concentrating caveolin-interacting molecules.
CAV3 mutations lead to interference with protein oligomerisation or intracellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.